disease 3,198 words KG: ent-dise-36887af5
Contents

Neuromyelitis Optica Spectrum Disorder (NMOSD)

Disease Info
Prevalence1-10 per 100,000 population 4
Geographic variationHigher prevalence in Asian, African, and Latin American populations
Age of onsetMean 30-40 years (range: <10 to >70)
Gender distributionStrong female predominance (F:M = 9:1)
EthnicityMore common in non-European populations
IncidenceApproximately 0.5-4 per 100,000 person-years
HLA associationsHLA-DRB1*03:01 and HLA-DPB1*05:01 associated with increased risk
AQP4 polymorphismsCertain haplotypes increase susceptibility
Familial casesRare but reported, suggesting shared genetic susceptibility
LocationPerivascular and pial astrocyte processes
FunctionWater homeostasis, glutamate clearance, potassium buffering
ExpressionHighest in optic nerve, spinal cord, hypothalamus, circumventricular organs
DatabasesOMIMOrphanetClinicalTrialsPubMed

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